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237986005: Disorder of mitochondrial respiratory chain complexes (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
356689015 Disorder of mitochondrial respiratory chain complexes en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
626800010 Disorder of mitochondrial respiratory chain complexes (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3037022018 Mitochondrial disorder, respiratory chain en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
356689015 Disorder of mitochondrial respiratory chain complexes en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
356689015 Disorder of mitochondrial respiratory chain complexes en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
626800010 Disorder of mitochondrial respiratory chain complexes (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
626800010 Disorder of mitochondrial respiratory chain complexes (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3037022018 Mitochondrial disorder, respiratory chain en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3037022018 Mitochondrial disorder, respiratory chain en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6062641000241112 trouble des complexes de la mitochondrie de la chaine respiratoire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6062651000241110 trouble des complexes mitochondriaux de la chaine respiratoire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6062641000241112 trouble des complexes de la mitochondrie de la chaine respiratoire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6062651000241110 trouble des complexes mitochondriaux de la chaine respiratoire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

63 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of mitochondrial respiratory chain complexes (disorder) Is a Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of mitochondrial respiratory chain complexes (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Disorder of mitochondrial respiratory chain complexes (disorder) Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) Is a True Disorder of mitochondrial respiratory chain complexes (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deletion and duplication of mitochondrial DNA Is a True Disorder of mitochondrial respiratory chain complexes (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Depletion of mitochondrial DNA Is a True Disorder of mitochondrial respiratory chain complexes (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes. Due to True Disorder of mitochondrial respiratory chain complexes (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 3
Multiple mitochondrial dysfunctions syndrome Is a True Disorder of mitochondrial respiratory chain complexes (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare disorder characterised by neurological dysfunction, hepatic failure and cardiomyopathy due to a deficiency of complex I of the respiratory chain. Is a True Disorder of mitochondrial respiratory chain complexes (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Chronic diarrhea with villous atrophy syndrome (disorder) Is a False Disorder of mitochondrial respiratory chain complexes (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures. Is a True Disorder of mitochondrial respiratory chain complexes (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder) Due to True Disorder of mitochondrial respiratory chain complexes (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome Is a True Disorder of mitochondrial respiratory chain complexes (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
DNA2-related mitochondrial DNA deletion syndrome Is a True Disorder of mitochondrial respiratory chain complexes (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder) Is a True Disorder of mitochondrial respiratory chain complexes (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe X-linked mitochondrial encephalomyopathy (disorder) Is a True Disorder of mitochondrial respiratory chain complexes (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) Is a True Disorder of mitochondrial respiratory chain complexes (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 30 Is a True Disorder of mitochondrial respiratory chain complexes (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 29 (disorder) Is a True Disorder of mitochondrial respiratory chain complexes (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 27 (disorder) Is a True Disorder of mitochondrial respiratory chain complexes (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which may present as exercise intolerance with prominent exertional dyspnea, progressive muscle weakness, spasticity, and neuropathy, but without cognitive impairment or cardiac involvement, or as global developmental delay, growth retardation, hypotonia, and spasticity. Hypertrophic cardiomyopathy, optic atrophy, seizures, and dysmorphic facial features have also been reported in the more severe phenotype. Serum lactate may be elevated, and muscle biopsy shows myopathic features and variably decreased activity of mitochondrial respiratory chain complexes. Is a True Disorder of mitochondrial respiratory chain complexes (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 23 Is a True Disorder of mitochondrial respiratory chain complexes (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
QRSL1-related combined oxidative phosphorylation defect Is a True Disorder of mitochondrial respiratory chain complexes (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts. Is a True Disorder of mitochondrial respiratory chain complexes (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Renal tubulopathy with encephalopathy and liver failure syndrome Is a True Disorder of mitochondrial respiratory chain complexes (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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